Hajdu–Cheney syndrome: phenotypical progression with de-novo: NOTCH2: mutation : Clinical Dysmorphology

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Hajdu–Cheney syndrome

phenotypical progression with de-novo NOTCH2 mutation

Descartes, Mariaa,b,*; Rojnueangnit, Kitiwana,*; Cole, Lauraa; Sutton, Ameliaa,c; Morgan, Sarah L.d; Patry, Lysannee; Samuels, Mark E.e,f

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doi: 10.1097/MCD.0000000000000034
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